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A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

机译：一种基于靶向汇集的DNA测序的新方法鉴定了遗传性视网膜营养不良患者的新突变

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Maitane Ezquerra-Inchausti; Ander Anasagasti; Olatz Barandika; Gonzaga Garay-Aramburu; Marta Galdós; Adolfo López de Munain; Cristina Irigoyen; Javier Ruiz-Ederra;
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1. A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies [J] . Maitane Ezquerra-Inchausti, Ander Anasagasti, Olatz Barandika, Scientific reports. . 2018,第1期

机译：一种基于靶向汇集的DNA测序的新方法鉴定了遗传性视网膜营养不良患者的新突变
2. Targeted Sequencing of 179 Genes Associated with Hereditary Retinal Dystrophies and 10 Candidate Genes Identifies Novel and Known Mutations in Patients with Various Retinal Diseases [J] . Xuejuan Chen, Kanxing Zhao, Xunlun Sheng, Investigative ophthalmology & visual science . 2013,第3期

机译：与遗传性视网膜营养不良相关的179个基因和10个候选基因的靶向测序确定了各种视网膜疾病患者的新型和已知突变
3. Targeted Sequencing of 179 Genes Associated with Hereditary Retinal Dystrophies and 10 Candidate Genes Identifies Novel and Known Mutations in Patients with Various Retinal Diseases [J] . Xuejuan Chen, Kanxing Zhao, Xunlun Sheng, Investigative ophthalmology & visual science . 2013,第3期

机译：与遗传性视网膜营养不良相关的179个基因和10个候选基因的靶向测序确定了各种视网膜疾病患者的新型和已知突变
4. Reducing the artifacts in the identification of outer retinal boundary in the SD-OCT image with inherit retinal dystrophies [C] . Min Zhang, Sekiguchi Hiroyuki, Uji Akihito, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2015

机译：减少具有遗传性视网膜营养不良的SD-OCT图像中识别外部视网膜边界的伪影
5. Exploring miRnas as Modulators in Retinal Degeneration: Potential Therapeutic Tools for Inherited Retinal Dystrophies [D] . Guadagnino, Irene. 2021

机译：视网膜退化中的调节剂探索miRNA：遗传性视网膜营养不良的潜在治疗工具
6. A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies [O] . Maitane Ezquerra-Inchausti, Ander Anasagasti, Olatz Barandika, -1

机译：一种基于靶向合并DNA测序的新方法可识别遗传性视网膜营养不良患者的新突变
7. Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. [O] . Christopher M Watson, Mohammed El-Asrag, David A Parry, 2014

机译：通过标记的合并DNa的靶向捕获和下一代测序对视网膜营养不良患者进行突变筛选。

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

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